Mutagenetix > Incidental Mutation

Incidental Mutation 'R5940:Rhbdf1'

462511

Institutional Source

Beutler Lab

Gene Symbol

Rhbdf1

Ensembl Gene

ENSMUSG00000020282

Gene Name

rhomboid 5 homolog 1

Synonyms

Dist, Egfr-rs, Dist1

MMRRC Submission

044132-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R5940 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32159585-32172300 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32159847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 843 (D843G)

Ref Sequence

ENSEMBL: ENSMUSP00000020524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020524] [ENSMUST00000039601] [ENSMUST00000121182] [ENSMUST00000132578] [ENSMUST00000143988] [ENSMUST00000146179] [ENSMUST00000149043]

AlphaFold

Q6PIX5

Predicted Effect

probably benign
Transcript: ENSMUST00000020524
AA Change: D843G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000020524
Gene: ENSMUSG00000020282
AA Change: D843G

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
Pfam:Rhomboid_SP	91	308	1.6e-116	PFAM
Pfam:Rhomboid	648	792	2.1e-32	PFAM
transmembrane domain	805	827	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000039601

SMART Domains

Protein: ENSMUSP00000046654
Gene: ENSMUSG00000040767

Domain	Start	End	E-Value	Type
PDB:1V2Y\|A	31	123	4e-63	PDB
Blast:UBQ	32	119	1e-30	BLAST
SCOP:d1euvb_	32	121	3e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121182

SMART Domains

Protein: ENSMUSP00000112483
Gene: ENSMUSG00000040767

Domain	Start	End	E-Value	Type
PDB:1V2Y\|A	31	83	4e-28	PDB
Blast:UBQ	32	83	2e-11	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125837

Predicted Effect

probably benign
Transcript: ENSMUST00000132578

SMART Domains

Protein: ENSMUSP00000120543
Gene: ENSMUSG00000020282

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
Pfam:Rhomboid_SP	91	158	7.9e-35	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142274

Predicted Effect

probably benign
Transcript: ENSMUST00000143988
AA Change: D218G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117471
Gene: ENSMUSG00000020282
AA Change: D218G

Domain	Start	End	E-Value	Type
Pfam:Rhomboid	52	167	1.6e-24	PFAM
transmembrane domain	181	203	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155736

Predicted Effect

probably benign
Transcript: ENSMUST00000146179

SMART Domains

Protein: ENSMUSP00000118985
Gene: ENSMUSG00000020282

Domain	Start	End	E-Value	Type
low complexity region	25	35	N/A	INTRINSIC
Pfam:Rhomboid_SP	91	155	7.1e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149043

SMART Domains

Protein: ENSMUSP00000119306
Gene: ENSMUSG00000040767

Domain	Start	End	E-Value	Type
PDB:1V2Y\|A	31	96	1e-40	PDB
Blast:UBQ	32	96	3e-15	BLAST

Meta Mutation Damage Score

0.3482

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

96% (88/92)

MGI Phenotype

PHENOTYPE: Homozygotes for a null allele show pleiotropic phenotypes and postnatal lethality largely dependent on the genetic background. Observed defects range from small size, reduced fat mass, and brain haemorrhages to small lymph organs, thrombosis, abnormal pancreatic acini, and behavioral deficits. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,384,645 (GRCm39)	Y440C	possibly damaging	Het
Aasdh	G	T	5: 77,030,745 (GRCm39)	S618R	probably benign	Het
Alpk1	T	G	3: 127,464,595 (GRCm39)	T1228P	probably benign	Het
Ank3	T	C	10: 69,756,316 (GRCm39)	V850A	probably benign	Het
Apeh	A	T	9: 107,969,098 (GRCm39)		probably null	Het
Ash1l	C	T	3: 88,891,343 (GRCm39)	T1074I	probably damaging	Het
C3	G	A	17: 57,517,244 (GRCm39)	S1297F	possibly damaging	Het
Cchcr1	G	A	17: 35,835,890 (GRCm39)	R284Q	probably damaging	Het
Cd93	A	T	2: 148,284,152 (GRCm39)	I398N	probably benign	Het
Cdcp3	A	T	7: 130,839,992 (GRCm39)	D638V	probably damaging	Het
Chrd	G	T	16: 20,553,336 (GRCm39)	R226L	probably null	Het
Clvs1	A	T	4: 9,449,443 (GRCm39)	N344I	possibly damaging	Het
Cyp4v3	A	T	8: 45,774,821 (GRCm39)	I111N	probably damaging	Het
Cysltr2	T	A	14: 73,267,389 (GRCm39)	Y107F	probably damaging	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Czib	A	G	4: 107,750,485 (GRCm39)		probably benign	Het
Defb47	A	T	14: 63,238,359 (GRCm39)	E28D	probably benign	Het
Dnajc30	T	A	5: 135,093,413 (GRCm39)	Y103*	probably null	Het
Drap1	T	C	19: 5,473,028 (GRCm39)	T160A	probably benign	Het
Dsp	A	G	13: 38,380,002 (GRCm39)	E2249G	possibly damaging	Het
E2f8	T	A	7: 48,520,825 (GRCm39)	I499F	probably benign	Het
Ebf1	T	A	11: 44,512,048 (GRCm39)	Y116N	probably damaging	Het
Ecrg4	C	T	1: 43,776,401 (GRCm39)	R41*	probably null	Het
Ect2	C	A	3: 27,169,614 (GRCm39)	E746D	probably benign	Het
Enpep	T	A	3: 129,106,227 (GRCm39)	Y333F	probably damaging	Het
Fat4	T	C	3: 38,943,798 (GRCm39)	V897A	probably benign	Het
Gja3	T	A	14: 57,273,317 (GRCm39)	S352C	probably damaging	Het
Gpr153	C	A	4: 152,367,832 (GRCm39)	P561Q	probably benign	Het
Hlcs	T	C	16: 93,935,571 (GRCm39)	M574V	probably damaging	Het
Hmcn1	A	G	1: 150,532,973 (GRCm39)	V3070A	probably benign	Het
Hsd3b2	G	T	3: 98,619,287 (GRCm39)	N219K	probably benign	Het
Htra3	T	C	5: 35,810,324 (GRCm39)	I453V	possibly damaging	Het
Klrc1	A	T	6: 129,651,898 (GRCm39)	M220K	possibly damaging	Het
Kntc1	T	G	5: 123,924,258 (GRCm39)	I1048S	probably benign	Het
Lrrc37	T	C	11: 103,504,712 (GRCm39)	S243G	probably benign	Het
Macf1	T	A	4: 123,326,674 (GRCm39)	D2822V	probably damaging	Het
Mcu	T	A	10: 59,292,554 (GRCm39)	I42F	possibly damaging	Het
Mkln1	T	A	6: 31,466,307 (GRCm39)	D521E	probably damaging	Het
Ms4a13	T	C	19: 11,170,330 (GRCm39)	N5D	possibly damaging	Het
Msh3	T	G	13: 92,386,351 (GRCm39)	N838T	probably damaging	Het
Msl2	T	A	9: 100,978,290 (GRCm39)	C221*	probably null	Het
Ncapd2	A	G	6: 125,145,832 (GRCm39)	S1310P	probably benign	Het
Ncoa6	A	T	2: 155,257,785 (GRCm39)	M586K	probably damaging	Het
Ndel1	C	T	11: 68,713,397 (GRCm39)		probably benign	Het
Ndst4	T	C	3: 125,355,068 (GRCm39)		probably benign	Het
Nes	T	G	3: 87,883,259 (GRCm39)	V506G	probably damaging	Het
Nrg1	T	C	8: 32,339,372 (GRCm39)	K200E	probably damaging	Het
Nt5c1b	A	G	12: 10,425,515 (GRCm39)	K295E	probably damaging	Het
Or4f54	G	A	2: 111,122,729 (GRCm39)	V39M	possibly damaging	Het
Or5b123	T	A	19: 13,596,517 (GRCm39)		probably null	Het
Or6s1	T	A	14: 51,308,179 (GRCm39)	I224L	probably damaging	Het
Or8b4	C	T	9: 37,830,733 (GRCm39)	T260I	probably damaging	Het
Or8g51	G	T	9: 38,609,007 (GRCm39)	Y218*	probably null	Het
Or8k38	A	T	2: 86,488,394 (GRCm39)	M136K	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pde1a	A	G	2: 79,718,183 (GRCm39)		probably null	Het
Pds5a	A	G	5: 65,801,328 (GRCm39)		probably benign	Het
Plbd1	A	T	6: 136,590,719 (GRCm39)		probably benign	Het
Plod2	T	A	9: 92,473,450 (GRCm39)	V292E	probably benign	Het
Polg	A	G	7: 79,103,819 (GRCm39)	V879A	possibly damaging	Het
Ppargc1a	C	T	5: 51,631,253 (GRCm39)	A459T	probably damaging	Het
Prorp	T	A	12: 55,351,659 (GRCm39)	W323R	probably damaging	Het
Psip1	T	C	4: 83,394,559 (GRCm39)	E83G	probably damaging	Het
Rnpepl1	G	T	1: 92,845,434 (GRCm39)	C451F	probably damaging	Het
Rrp1	T	C	10: 78,241,249 (GRCm39)	D206G	probably damaging	Het
Setbp1	A	T	18: 78,798,703 (GRCm39)	D1492E	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc16a6	C	T	11: 109,364,022 (GRCm39)		probably benign	Homo
Slc7a6os	A	G	8: 106,937,437 (GRCm39)	S37P	probably damaging	Het
Tenm4	T	A	7: 96,495,102 (GRCm39)	S1140T	probably damaging	Het
Thoc6	C	A	17: 23,889,315 (GRCm39)	R115L	probably benign	Het
Tmem63c	C	T	12: 87,121,946 (GRCm39)	H385Y	probably benign	Het
Trpm8	G	T	1: 88,279,137 (GRCm39)	E649*	probably null	Het
Usf1	A	G	1: 171,245,347 (GRCm39)	E253G	possibly damaging	Het
Vps13d	T	C	4: 144,801,545 (GRCm39)	T443A	probably benign	Het
Wdr86	T	C	5: 24,927,660 (GRCm39)	Y93C	probably damaging	Het
Zfp597	A	T	16: 3,683,685 (GRCm39)	I357N	probably damaging	Het
Zfp709	A	G	8: 72,644,064 (GRCm39)	I497V	possibly damaging	Het
Zxdc	T	C	6: 90,347,307 (GRCm39)	S223P	probably damaging	Het

Other mutations in Rhbdf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01863:Rhbdf1	APN	11	32,163,484 (GRCm39)	missense	probably benign
IGL02183:Rhbdf1	APN	11	32,160,543 (GRCm39)	missense	probably damaging	1.00
IGL02793:Rhbdf1	APN	11	32,163,293 (GRCm39)	missense	possibly damaging	0.92
IGL02875:Rhbdf1	APN	11	32,163,293 (GRCm39)	missense	possibly damaging	0.92
BB005:Rhbdf1	UTSW	11	32,159,898 (GRCm39)	missense	possibly damaging	0.93
BB015:Rhbdf1	UTSW	11	32,159,898 (GRCm39)	missense	possibly damaging	0.93
FR4589:Rhbdf1	UTSW	11	32,164,391 (GRCm39)	unclassified	probably benign
R0071:Rhbdf1	UTSW	11	32,160,498 (GRCm39)	missense	probably damaging	1.00
R0180:Rhbdf1	UTSW	11	32,160,042 (GRCm39)	missense	possibly damaging	0.76
R0512:Rhbdf1	UTSW	11	32,160,875 (GRCm39)	nonsense	probably null
R0843:Rhbdf1	UTSW	11	32,165,053 (GRCm39)	missense	probably damaging	1.00
R0880:Rhbdf1	UTSW	11	32,163,432 (GRCm39)	splice site	probably null
R1952:Rhbdf1	UTSW	11	32,164,277 (GRCm39)	nonsense	probably null
R2017:Rhbdf1	UTSW	11	32,160,471 (GRCm39)	missense	probably damaging	1.00
R2076:Rhbdf1	UTSW	11	32,164,088 (GRCm39)	missense	probably benign	0.01
R3032:Rhbdf1	UTSW	11	32,159,985 (GRCm39)	missense	probably damaging	1.00
R4355:Rhbdf1	UTSW	11	32,166,236 (GRCm39)	missense	probably damaging	1.00
R4429:Rhbdf1	UTSW	11	32,163,369 (GRCm39)	missense	probably benign	0.00
R4865:Rhbdf1	UTSW	11	32,164,517 (GRCm39)	missense	probably damaging	1.00
R5585:Rhbdf1	UTSW	11	32,160,222 (GRCm39)	splice site	probably null
R5728:Rhbdf1	UTSW	11	32,159,901 (GRCm39)	splice site	probably null
R5925:Rhbdf1	UTSW	11	32,162,906 (GRCm39)	missense	probably benign	0.24
R6083:Rhbdf1	UTSW	11	32,160,066 (GRCm39)	missense	probably damaging	1.00
R6088:Rhbdf1	UTSW	11	32,162,007 (GRCm39)	missense	possibly damaging	0.62
R6361:Rhbdf1	UTSW	11	32,162,915 (GRCm39)	missense	possibly damaging	0.92
R6692:Rhbdf1	UTSW	11	32,165,652 (GRCm39)	missense	probably damaging	0.98
R6727:Rhbdf1	UTSW	11	32,164,042 (GRCm39)	missense	possibly damaging	0.78
R6825:Rhbdf1	UTSW	11	32,159,970 (GRCm39)	missense	probably damaging	1.00
R7589:Rhbdf1	UTSW	11	32,162,903 (GRCm39)	missense	probably benign	0.01
R7928:Rhbdf1	UTSW	11	32,159,898 (GRCm39)	missense	possibly damaging	0.93
R7940:Rhbdf1	UTSW	11	32,166,258 (GRCm39)	start codon destroyed	possibly damaging	0.79
R7957:Rhbdf1	UTSW	11	32,160,523 (GRCm39)	missense	probably damaging	1.00
R8220:Rhbdf1	UTSW	11	32,164,563 (GRCm39)	missense	probably benign	0.30
R8490:Rhbdf1	UTSW	11	32,160,162 (GRCm39)	missense	probably damaging	0.98
R8939:Rhbdf1	UTSW	11	32,160,093 (GRCm39)	missense	probably benign	0.00
R9040:Rhbdf1	UTSW	11	32,163,063 (GRCm39)	missense	probably benign	0.23
R9257:Rhbdf1	UTSW	11	32,160,754 (GRCm39)	missense	probably benign	0.00
R9509:Rhbdf1	UTSW	11	32,165,055 (GRCm39)	missense	possibly damaging	0.96
R9575:Rhbdf1	UTSW	11	32,163,101 (GRCm39)	missense	probably benign	0.00
R9654:Rhbdf1	UTSW	11	32,166,028 (GRCm39)	missense	probably benign
V3553:Rhbdf1	UTSW	11	32,161,583 (GRCm39)	missense	probably damaging	1.00
Z1176:Rhbdf1	UTSW	11	32,165,125 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATGTACTAAATGCCCAGCAGTG -3'
(R):5'- TGCCCTGGATCGACAACTTC -3'

Sequencing Primer
(F):5'- ATGCCCAGCAGTGTAAGC -3'
(R):5'- ACATCTCGGGCTTTGTCAG -3'

Posted On

2017-02-28